Prenatal diagnosis of the Cerebro-Oculo-Facio-Skeletal (COFS) syndrome

Ultrasound in Obstetrics and Gynecology

Volumn 16, Issue 1, 2000, Pages 91-93

  Paladini, D ^a   D'Armiento, M ^b   Ardovino, I ^a   Martinelli, P ^a,c  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b FATEBENEFRATELLI HOSPITAL   (Italy)

^c NONE   (Italy)

Author keywords

Arthrogryposis; COFS; Fetus; Microphthalmia; Prenatal diagnosis; Ultrasound

Indexed keywords

ADULT; ARTHROGRYPOSIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; COFS SYNDROME; DIAGNOSTIC IMAGING; DIFFERENTIAL DIAGNOSIS; ECHOGRAPHY; FEMALE; HUMAN; MICROGNATHIA; MICROPHTHALMIA; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

ADULT; ARTHROGRYPOSIS; BRAIN; FACE; FEMALE; FETAL DISEASES; HUMANS; PREGNANCY; SYNDROME; ULTRASONOGRAPHY, PRENATAL;

EID: 0034548489     PISSN: 09607692     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1469-0705.2000.00150.x     Document Type: Article

References (18)

1. Autosomal recessive cerebro-oculo-facio-skeletal (COFS) syndrome
2. The cerebro-oculo-facio-skeletal syndrome
3. The cerebro-oculo-facio-skeletal (COFS) syndrome
4. The cerebro-oculo-facio-skeletal syndrome
5. Objective diagnosis of micrognathia in the fetus: The jaw index
6. Syndrome of camptodactyly, multiple ankyloses, facial anomalies and pulmonary hypoplasia: A lethal condition
7. Part I. Amyoplasia: A common sporadic condition with congenital contractures
8. Pterygium syndrome
9. Neo-Laxova syndrome: Prenatal ultrasonographic diagnosis, clinical and pathological studies, and new manifestations
10. Diagnostic criteria for Walker-Warburg syndrome
11. The Hallermann-Streiff syndrome. A review
12. Combined Goltz and Aicardi syndromes in a terminal Xp deletion: Are they a contiguous gene syndrome?
13. Spasms in flexion, callosal agenesis, ocular abnormalities: A new syndrome
14. Two 46XX. t(X;Y.) females with linear skin defects and congenital microphthalmia. A new syndrome at Xp22.3
15. Prenatal diagnosis of microcephaly assisted by vaginal sonography and power Doppler
16. Ultrasound diagnosis of the Pena-Shokeir phenotype at 14 weeks of pregnancy
17. Prenatal diagnosis of Walker-Warburg syndrome in three sibs